lung cancer gene and literature database Home

Annotation category 5

Basic annotation
Ontology and pathways
Literature evidence
Curated literatures
Expression
Gene expression chart
Somatic mutation
COSMIC and TCGA mutations
Network
Gene interaction
ceRNA
Gene-related ceRNA

Gene information

Gene ID	675
Symbol	BRCA2
Synonymous	BRCC2\|BROVCA2\|FACD\|FAD\|FAD1\|FANCD\|FANCD1\|GLM3\|PNCA2\|XRCC11
Full name	breast cancer 2, early onset
Gene description	BRCA1/BRCA2-containing complex, subunit 2\|Fanconi anemia group D1 protein\|breast and ovarian cancer susceptibility gene, early onset\|breast cancer 2 tumor suppressor\|breast cancer type 2 susceptibility protein
Cytoband	13q12.3
Gene type	protein-coding
Synonymous	MIM:600185; HGNC:HGNC:1101; Ensembl:ENSG00000139618; HPRD:02554; Vega:OTTHUMG00000017411

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.3638delA; p.V1214fs*14; 13:32337993-32337993	ovary	carcinoma	Deletion - Frameshift
c.2350A>G; p.M784V; 13:32336705-32336705	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3550G>A; p.G1184S; 13:32337905-32337905	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.963A>C; p.Q321H; 13:32332441-32332441	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4013G>A; p.G1338D; 13:32338368-32338368	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.8941G>A; p.E2981K; 13:32379503-32379503	skin; upper_arm	malignant_melanoma	Substitution - Missense
c.145G>T; p.E49*; 13:32319154-32319154	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.7420G>T; p.E2474*; 13:32355273-32355273	oesophagus	carcinoma	Substitution - Nonsense
c.7463G>C; p.R2488T; 13:32356455-32356455	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.9539T>G; p.L3180R; 13:32396935-32396935	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1316T>G; p.F439C; 13:32332794-32332794	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4585G>A; p.G1529R; 13:32338940-32338940	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4585G>A; p.G1529R; 13:32338940-32338940	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.3043A>G; p.K1015E; 13:32337398-32337398	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3286G>A; p.D1096N; 13:32337641-32337641	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.8663G>A; p.R2888H; 13:32376700-32376700	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.8663G>A; p.R2888H; 13:32376700-32376700	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.9246_9247insA; p.T3085fs*26; 13:32380135-32380136	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2979G>C; p.W993C; 13:32337334-32337334	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5254C>A; p.H1752N; 13:32339609-32339609	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.10071A>T; p.T3357T; 13:32398584-32398584	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4936G>C; p.E1646Q; 13:32339291-32339291	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.5046T>C; p.S1682S; 13:32339401-32339401	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.6030C>A; p.V2010V; 13:32340385-32340385	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.6155C>T; p.S2052L; 13:32340510-32340510	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5046T>C; p.S1682S; 13:32339401-32339401	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.8934delA; p.E2981fs*7; 13:32379496-32379496	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.464G>T; p.R155I; 13:32326139-32326139	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5046T>C; p.S1682S; 13:32339401-32339401	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.8934delA; p.E2981fs*7; 13:32379496-32379496	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.6865T>C; p.L2289L; 13:32344581-32344581	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2943A>C; p.K981N; 13:32337298-32337298	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1738A>C; p.I580L; 13:32333216-32333216	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.8852C>T; p.A2951V; 13:32379414-32379414	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.8971C>T; p.R2991C; 13:32379767-32379767	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7727G>C; p.G2576A; 13:32357851-32357851	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4777G>T; p.E1593*; 13:32339132-32339132	breast	carcinoma; ductal_carcinoma	Substitution - Nonsense
c.4777G>T; p.E1593*; 13:32339132-32339132	breast	carcinoma; ductal_carcinoma	Substitution - Nonsense
c.4777G>T; p.E1593*; 13:32339132-32339132	breast	carcinoma; ductal_carcinoma	Substitution - Nonsense
c.6291G>A; p.T2097T; 13:32340646-32340646	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5959C>G; p.Q1987E; 13:32340314-32340314	skin	malignant_melanoma	Substitution - Missense
c.1444C>A; p.L482I; 13:32332922-32332922	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.317-10A>G; p.?; 13:32325066-32325066	pancreas	carcinoma	Unknown
c.181C>T; p.L61L; 13:32319190-32319190	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5673A>T; p.A1891A; 13:32340028-32340028	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5375C>T; p.S1792F; 13:32339730-32339730	skin	malignant_melanoma	Substitution - Missense
c.9956C>A; p.S3319Y; 13:32398469-32398469	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6533A>G; p.H2178R; 13:32340888-32340888	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1810A>T; p.K604*; 13:32333288-32333288	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.5428G>A; p.V1810I; 13:32339783-32339783	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5240A>G; p.N1747S; 13:32339595-32339595	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5634C>T; p.N1878N; 13:32339989-32339989	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4216_4219delAAAG; p.K1406fs*3; 13:32338571-32338574	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.8257C>T; p.L2753F; 13:32363459-32363459	urinary_tract; bladder	carcinoma	Substitution - Missense
c.994A>T; p.I332F; 13:32332472-32332472	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4790C>A; p.S1597Y; 13:32339145-32339145	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3051C>A; p.I1017I; 13:32337406-32337406	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.7625C>T; p.T2542M; 13:32357749-32357749	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1069G>A; p.E357K; 13:32332547-32332547	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4790C>A; p.S1597Y; 13:32339145-32339145	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3051C>A; p.I1017I; 13:32337406-32337406	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.7633G>A; p.V2545I; 13:32357757-32357757	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.9995C>A; p.S3332Y; 13:32398508-32398508	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2293A>C; p.N765H; 13:32336648-32336648	breast	carcinoma	Substitution - Missense
c.7821delT; p.P2608fs*40; 13:32362538-32362538	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.6937G>A; p.G2313S; 13:32344653-32344653	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.10150C>T; p.R3384*; 13:32398663-32398663	prostate	adenoma	Substitution - Nonsense
c.9309A>G; p.I3103M; 13:32394741-32394741	skin	malignant_melanoma	Substitution - Missense
c.9995C>A; p.S3332Y; 13:32398508-32398508	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2603C>T; p.T868I; 13:32336958-32336958	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1664C>T; p.P555L; 13:32333142-32333142	skin	malignant_melanoma	Substitution - Missense
c.2309_2310insAA; p.L771fs*2; 13:32336664-32336665	lung	carcinoma; adenocarcinoma	Insertion - Frameshift
c.8487G>C; p.Q2829H; 13:32370557-32370557	pancreas	carcinoma	Substitution - Missense
c.4304A>C; p.N1435T; 13:32338659-32338659	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.9580C>A; p.P3194T; 13:32396976-32396976	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.486G>A; p.G162G; 13:32326252-32326252	liver	carcinoma	Substitution - coding silent
c.3429A>T; p.E1143D; 13:32337784-32337784	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3199A>G; p.T1067A; 13:32337554-32337554	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.8832C>A; p.I2944I; 13:32379394-32379394	lung	carcinoma; undifferentiated_carcinoma	Substitution - coding silent
c.9966G>T; p.M3322I; 13:32398479-32398479	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.4944delA; p.S1650fs*20; 13:32339299-32339299	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.10194G>T; p.Q3398H; 13:32398707-32398707	skin	malignant_melanoma	Substitution - Missense
c.2133C>T; p.C711C; 13:32336488-32336488	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.7314T>C; p.D2438D; 13:32355167-32355167	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.9512_9515delTACT; p.L3172fs*44; 13:32396908-32396911	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.4063G>T; p.D1355Y; 13:32338418-32338418	breast	carcinoma	Substitution - Missense
c.4315G>A; p.A1439T; 13:32338670-32338670	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2758C>T; p.P920S; 13:32337113-32337113	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2758C>T; p.P920S; 13:32337113-32337113	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2305_2306insATAAGAG; p.L769fs*21; 13:32336660-32336661	lung	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2758C>T; p.P920S; 13:32337113-32337113	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5350_5351insA; p.N1784fs*3; 13:32339705-32339706	endometrium	carcinoma	Insertion - Frameshift
c.415C>G; p.L139V; 13:32325174-32325174	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3515C>T; p.S1172L; 13:32337870-32337870	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2546T>C; p.V849A; 13:32336901-32336901	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1063G>C; p.V355L; 13:32332541-32332541	lung	carcinoma	Substitution - Missense
c.4317C>T; p.A1439A; 13:32338672-32338672	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.8295T>C; p.C2765C; 13:32363497-32363497	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3515C>T; p.S1172L; 13:32337870-32337870	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.8034G>T; p.R2678S; 13:32363236-32363236	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.9577A>C; p.T3193P; 13:32396973-32396973	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.7507G>T; p.V2503F; 13:32356499-32356499	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.775_776delAG; p.E260fs*15; 13:32331012-32331013	breast	carcinoma	Deletion - Frameshift
c.9763delG; p.E3256fs*19; 13:32398276-32398276	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.8777T>G; p.L2926*; 13:32379339-32379339	breast	carcinoma	Substitution - Nonsense
c.3050T>C; p.I1017T; 13:32337405-32337405	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3050T>C; p.I1017T; 13:32337405-32337405	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2760C>T; p.P920P; 13:32337115-32337115	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5249C>T; p.S1750F; 13:32339604-32339604	skin; trunk	malignant_melanoma	Substitution - Missense
c.7266T>A; p.C2422*; 13:32355119-32355119	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.7389T>C; p.N2463N; 13:32355242-32355242	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3G>A; p.M1I; 13:32316463-32316463	ovary	other; neoplasm	Substitution - Missense
c.2649C>T; p.F883F; 13:32337004-32337004	skin	malignant_melanoma	Substitution - coding silent
c.9206_9209delGTTC; p.C3069fs*5; 13:32380095-32380098	breast	carcinoma; basal_(triple-negative)_carcinoma	Deletion - Frameshift
c.3803C>A; p.S1268Y; 13:32338158-32338158	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1104A>G; p.S368S; 13:32332582-32332582	prostate	carcinoma	Substitution - coding silent
c.2889delA; p.M965fs*1; 13:32337244-32337244	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.862C>T; p.P288S; 13:32332340-32332340	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.862C>T; p.P288S; 13:32332340-32332340	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.9632C>A; p.T3211K; 13:32397028-32397028	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.862C>T; p.P288S; 13:32332340-32332340	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1452A>G; p.V484V; 13:32332930-32332930	pancreas	NS	Substitution - coding silent
c.8431G>A; p.D2811N; 13:32370501-32370501	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5553C>T; p.I1851I; 13:32339908-32339908	skin	malignant_melanoma	Substitution - coding silent
c.1452A>G; p.V484V; 13:32332930-32332930	pancreas	carcinoma	Substitution - coding silent
c.4357A>T; p.K1453*; 13:32338712-32338712	ovary	other; neoplasm	Substitution - Nonsense
c.4357A>T; p.K1453*; 13:32338712-32338712	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.5897A>G; p.H1966R; 13:32340252-32340252	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1876G>A; p.E626K; 13:32333354-32333354	skin	malignant_melanoma	Substitution - Missense
c.6319C>T; p.P2107S; 13:32340674-32340674	skin	malignant_melanoma	Substitution - Missense
c.4403C>T; p.S1468F; 13:32338758-32338758	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.8652T>A; p.Y2884*; 13:32376689-32376689	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1000C>T; p.H334Y; 13:32332478-32332478	skin	malignant_melanoma	Substitution - Missense
c.9785A>C; p.Q3262P; 13:32398298-32398298	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3771delA; p.I1258fs*1; 13:32338126-32338126	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.9741G>T; p.Q3247H; 13:32398254-32398254	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4514C>T; p.T1505I; 13:32338869-32338869	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3670G>A; p.G1224S; 13:32338025-32338025	skin; trunk	malignant_melanoma; nodular	Substitution - Missense
c.1365A>G; p.S455S; 13:32332843-32332843	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.3376G>C; p.E1126Q; 13:32337731-32337731	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4245G>A; p.E1415E; 13:32338600-32338600	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.6012A>G; p.E2004E; 13:32340367-32340367	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1955C>T; p.S652F; 13:32336310-32336310	skin	malignant_melanoma	Substitution - Missense
c.4534C>T; p.R1512C; 13:32338889-32338889	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2823G>C; p.V941V; 13:32337178-32337178	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.7960C>T; p.L2654F; 13:32362677-32362677	urinary_tract; bladder	carcinoma	Substitution - Missense
c.6012A>G; p.E2004E; 13:32340367-32340367	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.6012A>G; p.E2004E; 13:32340367-32340367	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.9831delG; p.P3278fs*35; 13:32398344-32398344	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.6012A>G; p.E2004E; 13:32340367-32340367	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.6493T>C; p.L2165L; 13:32340848-32340848	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4258G>A; p.D1420N; 13:32338613-32338613	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3106G>A; p.E1036K; 13:32337461-32337461	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.103C>T; p.L35F; 13:32319112-32319112	skin	malignant_melanoma	Substitution - Missense
c.3568C>T; p.R1190W; 13:32337923-32337923	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4599A>C; p.K1533N; 13:32338954-32338954	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2441C>T; p.P814L; 13:32336796-32336796	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.9349C>A; p.H3117N; 13:32394781-32394781	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4178C>T; p.A1393V; 13:32338533-32338533	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.7069C>T; p.L2357L; 13:32354922-32354922	skin	malignant_melanoma	Substitution - coding silent
c.9384A>G; p.R3128R; 13:32394816-32394816	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.6803G>T; p.R2268I; 13:32341158-32341158	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.667C>T; p.H223Y; 13:32329478-32329478	skin	malignant_melanoma	Substitution - Missense
c.2508T>C; p.P836P; 13:32336863-32336863	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.4156G>T; p.D1386Y; 13:32338511-32338511	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1435G>T; p.D479Y; 13:32332913-32332913	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.520C>T; p.R174C; 13:32326502-32326502	liver	carcinoma	Substitution - Missense
c.552A>G; p.L184L; 13:32326534-32326534	liver	carcinoma	Substitution - coding silent
c.7426G>T; p.E2476*; 13:32355279-32355279	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.4614_4634del21; p.L1539_L1545delLDKVKNL; 13:32338969-32338989	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - In frame
c.8657C>G; p.P2886R; 13:32376694-32376694	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.552A>G; p.L184L; 13:32326534-32326534	liver	carcinoma	Substitution - coding silent
c.9998T>C; p.L3333P; 13:32398511-32398511	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2495A>G; p.E832G; 13:32336850-32336850	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4477G>T; p.E1493*; 13:32338832-32338832	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3396A>G; p.K1132K; 13:32337751-32337751	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.4272T>C; p.S1424S; 13:32338627-32338627	endometrium	carcinoma; serous_carcinoma	Substitution - coding silent
c.1956T>C; p.S652S; 13:32336311-32336311	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.6615G>T; p.V2205V; 13:32340970-32340970	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.9285C>T; p.D3095D; 13:32394717-32394717	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.9285C>T; p.D3095D; 13:32394717-32394717	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.7050C>T; p.T2350T; 13:32354903-32354903	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.9285C>T; p.D3095D; 13:32394717-32394717	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.925_926insT; p.S309fs*6; 13:32332403-32332404	endometrium	carcinoma; serous_carcinoma	Insertion - Frameshift
c.53G>A; p.R18H; 13:32316513-32316513	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.9285C>T; p.D3095D; 13:32394717-32394717	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.9285C>T; p.D3095D; 13:32394717-32394717	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.8150C>T; p.A2717V; 13:32363352-32363352	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.561G>A; p.E187E; 13:32326543-32326543	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.67+5delT; p.?; 13:32316532-32316532	soft_tissue; striated_muscle	rhabdomyosarcoma; alveolar	Unknown
c.2290G>A; p.E764K; 13:32336645-32336645	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2290G>A; p.E764K; 13:32336645-32336645	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.8350C>T; p.R2784W; 13:32370420-32370420	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2796C>T; p.D932D; 13:32337151-32337151	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.5039C>A; p.S1680Y; 13:32339394-32339394	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.9992T>C; p.I3331T; 13:32398505-32398505	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.6292T>A; p.S2098T; 13:32340647-32340647	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.8350C>T; p.R2784W; 13:32370420-32370420	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.5808G>A; p.M1936I; 13:32340163-32340163	skin; trunk	malignant_melanoma	Substitution - Missense
c.2199C>A; p.V733V; 13:32336554-32336554	pancreas	carcinoma	Substitution - coding silent
c.8504C>A; p.S2835*; 13:32370972-32370972	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Nonsense
c.2134C>T; p.L712L; 13:32336489-32336489	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3529G>A; p.D1177N; 13:32337884-32337884	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3097G>C; p.D1033H; 13:32337452-32337452	breast	carcinoma	Substitution - Missense
c.2134C>T; p.L712L; 13:32336489-32336489	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.9939_9940insA; p.E3316fs*11; 13:32398452-32398453	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2296G>A; p.A766T; 13:32336651-32336651	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4061C>T; p.T1354M; 13:32338416-32338416	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3288T>G; p.D1096E; 13:32337643-32337643	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1838T>G; p.L613R; 13:32333316-32333316	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4061C>T; p.T1354M; 13:32338416-32338416	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4709G>C; p.R1570T; 13:32339064-32339064	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3575T>G; p.F1192C; 13:32337930-32337930	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6529A>G; p.I2177V; 13:32340884-32340884	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3575T>G; p.F1192C; 13:32337930-32337930	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4855A>G; p.N1619D; 13:32339210-32339210	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4670C>A; p.T1557N; 13:32339025-32339025	thyroid	other; neoplasm	Substitution - Missense
c.4613C>T; p.S1538F; 13:32338968-32338968	skin; ankle	malignant_melanoma; acral_lentiginous	Substitution - Missense
c.6747C>T; p.A2249A; 13:32341102-32341102	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4405G>T; p.D1469Y; 13:32338760-32338760	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2956_2958delAAT; p.N987delN; 13:32337311-32337313	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - In frame
c.8608C>T; p.Q2870*; 13:32371076-32371076	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.8608C>T; p.Q2870*; 13:32371076-32371076	skin	malignant_melanoma	Substitution - Nonsense
c.7006C>T; p.R2336C; 13:32346895-32346895	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4535G>A; p.R1512H; 13:32338890-32338890	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.9382C>T; p.R3128*; 13:32394814-32394814	pancreas	carcinoma	Substitution - Nonsense
c.7006C>T; p.R2336C; 13:32346895-32346895	breast	carcinoma	Substitution - Missense
c.8801A>G; p.Q2934R; 13:32379363-32379363	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2867A>C; p.K956T; 13:32337222-32337222	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1334C>A; p.S445Y; 13:32332812-32332812	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.800G>A; p.G267E; 13:32332278-32332278	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2476G>T; p.E826*; 13:32336831-32336831	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.800G>A; p.G267E; 13:32332278-32332278	urinary_tract; bladder	carcinoma	Substitution - Missense
c.7046T>G; p.F2349C; 13:32354899-32354899	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.8445T>C; p.V2815V; 13:32370515-32370515	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.6065C>T; p.S2022L; 13:32340420-32340420	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4695G>T; p.K1565N; 13:32339050-32339050	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4820T>G; p.I1607S; 13:32339175-32339175	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4165T>G; p.F1389V; 13:32338520-32338520	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.6602C>T; p.S2201F; 13:32340957-32340957	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.10151G>A; p.R3384Q; 13:32398664-32398664	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.374A>G; p.D125G; 13:32325133-32325133	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4084delC; p.H1362fs*12; 13:32338439-32338439	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.9755C>T; p.S3252F; 13:32398268-32398268	skin	malignant_melanoma	Substitution - Missense
c.5345delA; p.N1784fs*7; 13:32339700-32339700	stomach	adenocarcinoma	Deletion - Frameshift
c.1528G>T; p.E510*; 13:32333006-32333006	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.6125delA; p.G2044fs*7; 13:32340480-32340480	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.7505G>A; p.R2502H; 13:32356497-32356497	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.7904A>G; p.E2635G; 13:32362621-32362621	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1528G>T; p.E510*; 13:32333006-32333006	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4570T>G; p.F1524V; 13:32338925-32338925	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.8092G>A; p.A2698T; 13:32363294-32363294	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.6101G>A; p.R2034H; 13:32340456-32340456	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2494G>A; p.E832K; 13:32336849-32336849	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.6618A>C; p.K2206N; 13:32340973-32340973	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4919A>G; p.H1640R; 13:32339274-32339274	pancreas	carcinoma	Substitution - Missense
c.1237C>G; p.L413V; 13:32332715-32332715	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.4779A>G; p.E1593E; 13:32339134-32339134	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1237C>G; p.L413V; 13:32332715-32332715	stomach	adenocarcinoma	Substitution - Missense
c.4885A>G; p.T1629A; 13:32339240-32339240	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5985C>T; p.N1995N; 13:32340340-32340340	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4258G>T; p.D1420Y; 13:32338613-32338613	skin	malignant_melanoma	Substitution - Missense
c.7355A>C; p.N2452T; 13:32355208-32355208	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2051_2074del24; p.D685_K692delDLDYKEAK; 13:32336406-32336429	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Deletion - In frame
c.5354C>T; p.T1785I; 13:32339709-32339709	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6464T>A; p.L2155H; 13:32340819-32340819	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.9829C>T; p.L3277L; 13:32398342-32398342	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4504C>G; p.Q1502E; 13:32338859-32338859	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1889C>T; p.T630I; 13:32333367-32333367	ovary	carcinoma	Substitution - Missense
c.951delA; p.N319fs*5; 13:32332429-32332429	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.632-2A>G; p.?; 13:32329441-32329441	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.1889C>T; p.T630I; 13:32333367-32333367	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.10207G>C; p.E3403Q; 13:32398720-32398720	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2886T>C; p.H962H; 13:32337241-32337241	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2689G>T; p.E897*; 13:32337044-32337044	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1403G>T; p.R468I; 13:32332881-32332881	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1164A>T; p.V388V; 13:32332642-32332642	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.9155G>A; p.R3052Q; 13:32380044-32380044	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5744C>T; p.T1915M; 13:32340099-32340099	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6200C>T; p.S2067F; 13:32340555-32340555	skin	malignant_melanoma	Substitution - Missense
c.4208C>G; p.T1403S; 13:32338563-32338563	NS	malignant_melanoma	Substitution - Missense
c.3472G>C; p.E1158Q; 13:32337827-32337827	breast	carcinoma	Substitution - Missense
c.2886T>C; p.H962H; 13:32337241-32337241	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.8991T>G; p.Y2997*; 13:32379787-32379787	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2851C>A; p.L951I; 13:32337206-32337206	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.522T>C; p.R174R; 13:32326504-32326504	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.9154C>T; p.R3052W; 13:32380043-32380043	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4036A>G; p.T1346A; 13:32338391-32338391	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.559G>A; p.E187K; 13:32326541-32326541	salivary_gland; parotid	carcinoma; adenoid_cystic_carcinoma	Substitution - Missense
c.6215C>T; p.S2072F; 13:32340570-32340570	skin; trunk	malignant_melanoma; nodular	Substitution - Missense
c.5637G>T; p.E1879D; 13:32339992-32339992	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.996T>G; p.I332M; 13:32332474-32332474	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.8051A>T; p.K2684I; 13:32363253-32363253	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.75A>G; p.G25G; 13:32319084-32319084	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.8223G>T; p.K2741N; 13:32363425-32363425	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2275C>A; p.L759I; 13:32336630-32336630	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4325C>A; p.S1442*; 13:32338680-32338680	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.6216C>T; p.S2072S; 13:32340571-32340571	skin	malignant_melanoma	Substitution - coding silent
c.8201C>A; p.P2734H; 13:32363403-32363403	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6475C>T; p.Q2159*; 13:32340830-32340830	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - Nonsense
c.1495C>T; p.Q499*; 13:32332973-32332973	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2164A>C; p.K722Q; 13:32336519-32336519	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4321G>T; p.E1441*; 13:32338676-32338676	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2701C>A; p.L901I; 13:32337056-32337056	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6647C>T; p.S2216F; 13:32341002-32341002	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3273A>C; p.L1091F; 13:32337628-32337628	central_nervous_system; brain	glioma	Substitution - Missense
c.2317C>A; p.P773T; 13:32336672-32336672	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.4655G>A; p.G1552D; 13:32339010-32339010	pancreas	carcinoma	Substitution - Missense
c.6187G>A; p.G2063R; 13:32340542-32340542	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.7283T>A; p.L2428*; 13:32355136-32355136	pancreas	carcinoma	Substitution - Nonsense
c.559G>T; p.E187*; 13:32326541-32326541	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.6803G>A; p.R2268K; 13:32341158-32341158	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.559G>T; p.E187*; 13:32326541-32326541	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.9285C>A; p.D3095E; 13:32394717-32394717	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.3623T>A; p.L1208*; 13:32337978-32337978	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.7566T>C; p.S2522S; 13:32356558-32356558	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.7566T>C; p.S2522S; 13:32356558-32356558	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.6523G>C; p.E2175Q; 13:32340878-32340878	breast	carcinoma	Substitution - Missense
c.5227A>C; p.S1743R; 13:32339582-32339582	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.8639C>T; p.T2880I; 13:32376676-32376676	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.9529G>C; p.E3177Q; 13:32396925-32396925	breast	carcinoma	Substitution - Missense
c.4427A>G; p.D1476G; 13:32338782-32338782	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1729G>T; p.A577S; 13:32333207-32333207	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3705A>G; p.Q1235Q; 13:32338060-32338060	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.6537T>G; p.V2179V; 13:32340892-32340892	skin	malignant_melanoma	Substitution - coding silent
c.9020G>T; p.R3007I; 13:32379816-32379816	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.8472A>T; p.R2824S; 13:32370542-32370542	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5962G>A; p.V1988I; 13:32340317-32340317	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4706A>G; p.Y1569C; 13:32339061-32339061	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3370C>T; p.Q1124*; 13:32337725-32337725	ovary	other; neoplasm	Substitution - Nonsense
c.4054G>T; p.D1352Y; 13:32338409-32338409	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3791A>G; p.K1264R; 13:32338146-32338146	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1217delC; p.Q407fs*23; 13:32332695-32332695	ovary	carcinoma; clear_cell_carcinoma	Deletion - Frameshift
c.865A>C; p.N289H; 13:32332343-32332343	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.7253G>T; p.R2418I; 13:32355106-32355106	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5458T>C; p.C1820R; 13:32339813-32339813	thyroid	carcinoma	Substitution - Missense
c.6435T>C; p.N2145N; 13:32340790-32340790	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.6058G>A; p.E2020K; 13:32340413-32340413	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1114A>C; p.N372H; 13:32332592-32332592	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1114A>C; p.N372H; 13:32332592-32332592	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6058G>A; p.E2020K; 13:32340413-32340413	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4993G>C; p.E1665Q; 13:32339348-32339348	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6909C>T; p.S2303S; 13:32344625-32344625	skin	malignant_melanoma	Substitution - coding silent
c.1114A>C; p.N372H; 13:32332592-32332592	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8858A>C; p.E2953A; 13:32379420-32379420	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.9679C>A; p.Q3227K; 13:32398192-32398192	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1114A>C; p.N372H; 13:32332592-32332592	thyroid	other; neoplasm	Substitution - Missense
c.1114A>C; p.N372H; 13:32332592-32332592	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1114A>C; p.N372H; 13:32332592-32332592	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.8510G>T; p.G2837V; 13:32370978-32370978	breast	carcinoma	Substitution - Missense
c.2556C>G; p.N852K; 13:32336911-32336911	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2491G>A; p.V831I; 13:32336846-32336846	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6010G>C; p.E2004Q; 13:32340365-32340365	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.7948G>C; p.E2650Q; 13:32362665-32362665	breast	carcinoma	Substitution - Missense
c.5750C>T; p.S1917L; 13:32340105-32340105	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.3232G>A; p.V1078I; 13:32337587-32337587	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6762T>C; p.F2254F; 13:32341117-32341117	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5886delA; p.I1962fs*42; 13:32340241-32340241	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.5750C>T; p.S1917L; 13:32340105-32340105	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1408G>C; p.E470Q; 13:32332886-32332886	ovary	other; neoplasm	Substitution - Missense
c.8360G>T; p.R2787L; 13:32370430-32370430	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.8360G>T; p.R2787L; 13:32370430-32370430	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1816C>T; p.P606S; 13:32333294-32333294	skin	malignant_melanoma	Substitution - Missense
c.5941G>T; p.A1981S; 13:32340296-32340296	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.565G>C; p.D189H; 13:32326547-32326547	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.8360G>T; p.R2787L; 13:32370430-32370430	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1242G>A; p.L414L; 13:32332720-32332720	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4434A>G; p.L1478L; 13:32338789-32338789	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4914A>T; p.K1638N; 13:32339269-32339269	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2123C>A; p.S708Y; 13:32336478-32336478	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1817C>T; p.P606L; 13:32333295-32333295	skin	malignant_melanoma	Substitution - Missense
c.68-7delT; p.?; 13:32319070-32319070	endometrium	carcinoma	Unknown
c.6552G>A; p.Q2184Q; 13:32340907-32340907	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.68-7delT; p.?; 13:32319070-32319070	endometrium	carcinoma	Unknown
c.68-7delT; p.?; 13:32319070-32319070	endometrium	carcinoma	Unknown
c.9038C>T; p.T3013I; 13:32379834-32379834	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.68-7delT; p.?; 13:32319070-32319070	endometrium	carcinoma	Unknown
c.10186A>C; p.S3396R; 13:32398699-32398699	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5500A>C; p.S1834R; 13:32339855-32339855	stomach	adenocarcinoma	Substitution - Missense
c.4552G>C; p.E1518Q; 13:32338907-32338907	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2811A>G; p.Q937Q; 13:32337166-32337166	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.695A>G; p.Y232C; 13:32330932-32330932	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.871C>T; p.L291L; 13:32332349-32332349	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4550_4559del10; p.K1517fs*23; 13:32338905-32338914	breast	carcinoma; ductal_carcinoma	Deletion - Frameshift
c.4550_4559del10; p.K1517fs*23; 13:32338905-32338914	breast	carcinoma; ductal_carcinoma	Deletion - Frameshift
c.10253T>G; p.I3418S; 13:32398766-32398766	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1417C>T; p.H473Y; 13:32332895-32332895	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3769C>T; p.P1257S; 13:32338124-32338124	skin	malignant_melanoma	Substitution - Missense
c.8087_8102del16; p.S2697fs*31; 13:32363289-32363304	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.7840C>T; p.L2614F; 13:32362557-32362557	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.10070C>T; p.T3357I; 13:32398583-32398583	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.6728C>G; p.S2243C; 13:32341083-32341083	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3050T>G; p.I1017S; 13:32337405-32337405	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.6728C>G; p.S2243C; 13:32341083-32341083	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2102T>G; p.F701C; 13:32336457-32336457	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.561G>T; p.E187D; 13:32326543-32326543	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6931C>G; p.P2311A; 13:32344647-32344647	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.615T>G; p.S205R; 13:32326597-32326597	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8749C>T; p.L2917F; 13:32376786-32376786	skin	malignant_melanoma	Substitution - Missense
c.3539A>G; p.K1180R; 13:32337894-32337894	liver	carcinoma	Substitution - Missense
c.561G>T; p.E187D; 13:32326543-32326543	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3539A>G; p.K1180R; 13:32337894-32337894	liver	carcinoma	Substitution - Missense
c.7017G>A; p.K2339K; 13:32354870-32354870	liver	carcinoma	Substitution - coding silent
c.7017G>A; p.K2339K; 13:32354870-32354870	liver	carcinoma	Substitution - coding silent
c.8800C>A; p.Q2934K; 13:32379362-32379362	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3387G>A; p.Q1129Q; 13:32337742-32337742	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1813_1814insA; p.I605fs*11; 13:32333291-32333292	ovary	carcinoma; serous_carcinoma	Insertion - Frameshift
c.7402G>A; p.V2468I; 13:32355255-32355255	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.7822C>T; p.P2608S; 13:32362539-32362539	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3361T>A; p.S1121T; 13:32337716-32337716	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2632G>A; p.D878N; 13:32336987-32336987	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.10243delA; p.K3416fs*>3; 13:32398756-32398756	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.702C>T; p.S234S; 13:32330939-32330939	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3686delT; p.S1230fs*9; 13:32338041-32338041	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.2636C>T; p.S879F; 13:32336991-32336991	breast	carcinoma	Substitution - Missense
c.4303A>C; p.N1435H; 13:32338658-32338658	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2528C>T; p.A843V; 13:32336883-32336883	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3441C>A; p.N1147K; 13:32337796-32337796	liver	carcinoma	Substitution - Missense
c.8084C>A; p.S2695*; 13:32363286-32363286	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1405G>A; p.D469N; 13:32332883-32332883	skin; trunk	malignant_melanoma	Substitution - Missense
c.1042G>A; p.V348M; 13:32332520-32332520	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4625T>C; p.V1542A; 13:32338980-32338980	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.7966C>A; p.L2656I; 13:32362683-32362683	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1922C>A; p.S641Y; 13:32336277-32336277	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3417G>T; p.K1139N; 13:32337772-32337772	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.9843A>C; p.P3281P; 13:32398356-32398356	breast	carcinoma	Substitution - coding silent
c.10056T>G; p.L3352L; 13:32398569-32398569	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.9076C>T; p.Q3026*; 13:32379872-32379872	skin	malignant_melanoma	Substitution - Nonsense
c.8015_8016insA; p.I2675fs*6; 13:32363217-32363218	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2621C>T; p.T874I; 13:32336976-32336976	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5660C>T; p.T1887M; 13:32340015-32340015	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.9986A>T; p.N3329I; 13:32398499-32398499	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5160A>T; p.S1720S; 13:32339515-32339515	liver	carcinoma	Substitution - coding silent
c.4179G>A; p.A1393A; 13:32338534-32338534	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.7847C>T; p.S2616F; 13:32362564-32362564	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.23G>T; p.R8M; 13:32316483-32316483	ovary	other; neoplasm	Substitution - Missense
c.5660C>T; p.T1887M; 13:32340015-32340015	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4179G>A; p.A1393A; 13:32338534-32338534	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.671A>T; p.D224V; 13:32329482-32329482	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.8686C>T; p.R2896C; 13:32376723-32376723	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5729A>G; p.N1910S; 13:32340084-32340084	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.8686C>T; p.R2896C; 13:32376723-32376723	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.10024G>A; p.E3342K; 13:32398537-32398537	breast	carcinoma	Substitution - Missense
c.52C>T; p.R18C; 13:32316512-32316512	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.10024G>A; p.E3342K; 13:32398537-32398537	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.10024G>A; p.E3342K; 13:32398537-32398537	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1460C>T; p.A487V; 13:32332938-32332938	large_intestine; colon	carcinoma	Substitution - Missense
c.5731G>A; p.D1911N; 13:32340086-32340086	urinary_tract; bladder	carcinoma	Substitution - Missense
c.9938A>C; p.K3313T; 13:32398451-32398451	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.75_76insCCAATGA; p.I27fs*6; 13:32319084-32319085	oesophagus	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.8794C>T; p.H2932Y; 13:32379356-32379356	thyroid	carcinoma	Substitution - Missense
c.8421G>A; p.S2807S; 13:32370491-32370491	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3512C>T; p.P1171L; 13:32337867-32337867	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.9146A>C; p.Y3049S; 13:32380035-32380035	breast	carcinoma	Substitution - Missense
c.5282G>T; p.G1761V; 13:32339637-32339637	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5645C>A; p.S1882*; 13:32340000-32340000	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.5645C>A; p.S1882*; 13:32340000-32340000	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.10071A>G; p.T3357T; 13:32398584-32398584	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2950_2951insA; p.N986fs*2; 13:32337305-32337306	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1011C>T; p.N337N; 13:32332489-32332489	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.7243C>T; p.H2415Y; 13:32355096-32355096	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.47A>G; p.K16R; 13:32316507-32316507	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.47A>G; p.K16R; 13:32316507-32316507	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3326C>A; p.A1109E; 13:32337681-32337681	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6728C>A; p.S2243Y; 13:32341083-32341083	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.947G>A; p.R316K; 13:32332425-32332425	skin	malignant_melanoma	Substitution - Missense
c.6050A>C; p.K2017T; 13:32340405-32340405	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.6513G>C; p.V2171V; 13:32340868-32340868	thyroid	other; neoplasm	Substitution - coding silent
c.6834C>T; p.I2278I; 13:32341189-32341189	skin	malignant_melanoma	Substitution - coding silent
c.3262C>T; p.P1088S; 13:32337617-32337617	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1368G>T; p.E456D; 13:32332846-32332846	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3907G>T; p.G1303C; 13:32338262-32338262	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.8152A>G; p.I2718V; 13:32363354-32363354	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4912A>G; p.K1638E; 13:32339267-32339267	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4914A>G; p.K1638K; 13:32339269-32339269	large_intestine; rectum	NS	Substitution - coding silent
c.5519G>T; p.G1840V; 13:32339874-32339874	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3191C>A; p.S1064*; 13:32337546-32337546	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.1794_1798delATCTT; p.S599fs*1; 13:32333272-32333276	breast	carcinoma	Deletion - Frameshift
c.3191C>A; p.S1064*; 13:32337546-32337546	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.841G>C; p.D281H; 13:32332319-32332319	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.3738T>C; p.N1246N; 13:32338093-32338093	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.464G>A; p.R155K; 13:32326139-32326139	liver	carcinoma	Substitution - Missense
c.8465T>C; p.I2822T; 13:32370535-32370535	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.472T>C; p.S158P; 13:32326147-32326147	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.7795G>T; p.E2599*; 13:32357919-32357919	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4219G>C; p.E1407Q; 13:32338574-32338574	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7197A>G; p.T2399T; 13:32355050-32355050	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.3429A>G; p.E1143E; 13:32337784-32337784	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.9487delA; p.N3164fs*53; 13:32394919-32394919	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.5067delA; p.K1691fs*15; 13:32339422-32339422	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.5105C>T; p.P1702L; 13:32339460-32339460	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7054C>T; p.P2352S; 13:32354907-32354907	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.8753A>G; p.E2918G; 13:32376790-32376790	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2921A>G; p.D974G; 13:32337276-32337276	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.8341A>G; p.N2781D; 13:32370411-32370411	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1805_1806insA; p.I605fs*11; 13:32333283-32333284	pancreas	carcinoma; ductal_carcinoma	Insertion - Frameshift
c.7708A>T; p.K2570*; 13:32357832-32357832	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.7617G>T; p.Q2539H; 13:32356609-32356609	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6743A>T; p.H2248L; 13:32341098-32341098	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6469C>T; p.Q2157*; 13:32340824-32340824	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.5020A>G; p.S1674G; 13:32339375-32339375	prostate	carcinoma	Substitution - Missense
c.9016T>A; p.Y3006N; 13:32379812-32379812	ovary	other; neoplasm	Substitution - Missense
c.8524C>A; p.R2842S; 13:32370992-32370992	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.7461C>A; p.A2487A; 13:32356453-32356453	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1550A>G; p.N517S; 13:32333028-32333028	central_nervous_system; brain	glioma	Substitution - Missense
c.2059G>C; p.D687H; 13:32336414-32336414	breast	carcinoma	Substitution - Missense
c.2985A>T; p.G995G; 13:32337340-32337340	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2103T>C; p.F701F; 13:32336458-32336458	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5045G>C; p.S1682T; 13:32339400-32339400	peritoneum; appendix	other; pseudomyxoma_peritonei	Substitution - Missense
c.4022C>G; p.S1341*; 13:32338377-32338377	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.7559G>A; p.R2520Q; 13:32356551-32356551	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.8716G>T; p.E2906*; 13:32376753-32376753	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.7035G>C; p.Q2345H; 13:32354888-32354888	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.9253A>G; p.T3085A; 13:32380142-32380142	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5946delT; p.S1982fs*22; 13:32340301-32340301	pancreas	carcinoma; adenocarcinoma	Deletion - Frameshift
c.6155C>A; p.S2052*; 13:32340510-32340510	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.9716C>A; p.S3239Y; 13:32398229-32398229	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.10076delA; p.K3360fs*23; 13:32398589-32398589	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1329G>T; p.E443D; 13:32332807-32332807	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.6800C>T; p.S2267L; 13:32341155-32341155	NS	malignant_melanoma	Substitution - Missense
c.85C>A; p.L29I; 13:32319094-32319094	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2194G>C; p.E732Q; 13:32336549-32336549	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4575T>C; p.H1525H; 13:32338930-32338930	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.6445A>G; p.I2149V; 13:32340800-32340800	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1043T>C; p.V348A; 13:32332521-32332521	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.8212G>T; p.A2738S; 13:32363414-32363414	thyroid	carcinoma	Substitution - Missense
c.10069A>G; p.T3357A; 13:32398582-32398582	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2724A>C; p.E908D; 13:32337079-32337079	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.198A>G; p.Q66Q; 13:32319207-32319207	skin	malignant_melanoma	Substitution - coding silent
c.6357C>T; p.N2119N; 13:32340712-32340712	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4416G>T; p.K1472N; 13:32338771-32338771	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4273G>C; p.D1425H; 13:32338628-32338628	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6772G>A; p.E2258K; 13:32341127-32341127	pancreas	carcinoma	Substitution - Missense
c.6652G>T; p.D2218Y; 13:32341007-32341007	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5142T>G; p.Y1714*; 13:32339497-32339497	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.6772G>A; p.E2258K; 13:32341127-32341127	urinary_tract; bladder	carcinoma	Substitution - Missense
c.6772G>A; p.E2258K; 13:32341127-32341127	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6357C>T; p.N2119N; 13:32340712-32340712	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1689G>C; p.W563C; 13:32333167-32333167	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.7243C>A; p.H2415N; 13:32355096-32355096	breast	carcinoma	Substitution - Missense
c.575T>C; p.M192T; 13:32326557-32326557	urinary_tract; bladder	carcinoma	Substitution - Missense
c.6596C>G; p.T2199S; 13:32340951-32340951	NS	malignant_melanoma	Substitution - Missense
c.5315T>G; p.I1772S; 13:32339670-32339670	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.8009C>T; p.S2670L; 13:32363211-32363211	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4627delA; p.N1544fs*24; 13:32338982-32338982	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2808_2811delACAA; p.A938fs*21; 13:32337163-32337166	ovary	carcinoma	Deletion - Frameshift
c.6473T>G; p.F2158C; 13:32340828-32340828	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2868A>G; p.K956K; 13:32337223-32337223	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4060A>G; p.T1354A; 13:32338415-32338415	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4060A>G; p.T1354A; 13:32338415-32338415	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7670C>T; p.A2557V; 13:32357794-32357794	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.10202C>T; p.T3401M; 13:32398715-32398715	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4060A>G; p.T1354A; 13:32338415-32338415	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4060A>G; p.T1354A; 13:32338415-32338415	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6947A>G; p.K2316R; 13:32346836-32346836	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7132T>G; p.S2378A; 13:32354985-32354985	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2553C>G; p.F851L; 13:32336908-32336908	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4945A>T; p.K1649*; 13:32339300-32339300	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.8521T>A; p.F2841I; 13:32370989-32370989	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.284T>A; p.V95E; 13:32319293-32319293	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.5683G>A; p.E1895K; 13:32340038-32340038	urinary_tract; bladder	carcinoma	Substitution - Missense
c.7051G>A; p.A2351T; 13:32354904-32354904	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3141T>G; p.I1047M; 13:32337496-32337496	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1380T>C; p.N460N; 13:32332858-32332858	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2133C>A; p.C711*; 13:32336488-32336488	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.3596A>G; p.D1199G; 13:32337951-32337951	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.8016delA; p.K2674fs*2; 13:32363218-32363218	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.7942A>T; p.S2648C; 13:32362659-32362659	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4012G>A; p.G1338S; 13:32338367-32338367	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4350T>C; p.F1450F; 13:32338705-32338705	skin	malignant_melanoma	Substitution - coding silent
c.9090delA; p.T3033fs*29; 13:32379886-32379886	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.9090delA; p.T3033fs*29; 13:32379886-32379886	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.9090delA; p.T3033fs*29; 13:32379886-32379886	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.7977-1G>A; p.?; 13:32363178-32363178	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.9090delA; p.T3033fs*29; 13:32379886-32379886	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.2203G>T; p.A735S; 13:32336558-32336558	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.9090delA; p.T3033fs*29; 13:32379886-32379886	stomach	adenocarcinoma	Deletion - Frameshift
c.4092_4093delAT; p.I1364fs*3; 13:32338447-32338448	endometrium	carcinoma	Deletion - Frameshift
c.7407T>G; p.T2469T; 13:32355260-32355260	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5125G>T; p.D1709Y; 13:32339480-32339480	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.7746T>C; p.A2582A; 13:32357870-32357870	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5881A>G; p.S1961G; 13:32340236-32340236	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5010T>G; p.A1670A; 13:32339365-32339365	skin	malignant_melanoma	Substitution - coding silent
c.1075G>C; p.E359Q; 13:32332553-32332553	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.9911G>C; p.C3304S; 13:32398424-32398424	breast	carcinoma	Substitution - Missense
c.5555delT; p.C1853fs*10; 13:32339910-32339910	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.4792C>T; p.L1598F; 13:32339147-32339147	skin	malignant_melanoma	Substitution - Missense
c.9924C>G; p.Y3308*; 13:32398437-32398437	breast	carcinoma	Substitution - Nonsense
c.4561C>T; p.L1521L; 13:32338916-32338916	skin	malignant_melanoma	Substitution - coding silent
c.1481T>C; p.V494A; 13:32332959-32332959	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2962G>A; p.D988N; 13:32337317-32337317	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4146A>C; p.E1382D; 13:32338501-32338501	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3049A>G; p.I1017V; 13:32337404-32337404	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.794-1G>A; p.?; 13:32332271-32332271	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.7253G>C; p.R2418T; 13:32355106-32355106	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.9331G>A; p.E3111K; 13:32394763-32394763	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.346A>C; p.S116R; 13:32325105-32325105	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.9606G>A; p.P3202P; 13:32397002-32397002	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.7601C>T; p.A2534V; 13:32356593-32356593	kidney	other; neoplasm	Substitution - Missense
c.9971C>T; p.P3324L; 13:32398484-32398484	skin	malignant_melanoma	Substitution - Missense
c.7260A>G; p.E2420E; 13:32355113-32355113	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1661G>T; p.C554F; 13:32333139-32333139	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1967C>G; p.T656S; 13:32336322-32336322	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.6566A>T; p.N2189I; 13:32340921-32340921	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.587G>T; p.S196I; 13:32326569-32326569	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3476G>A; p.C1159Y; 13:32337831-32337831	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.10127C>G; p.S3376*; 13:32398640-32398640	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1437C>G; p.D479E; 13:32332915-32332915	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.9889G>A; p.A3297T; 13:32398402-32398402	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1988T>C; p.F663S; 13:32336343-32336343	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.4012G>T; p.G1338C; 13:32338367-32338367	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4621A>G; p.K1541E; 13:32338976-32338976	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.8800C>T; p.Q2934*; 13:32379362-32379362	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.476-1G>A; p.?; 13:32326241-32326241	ovary	carcinoma; serous_carcinoma	Unknown
c.2654delA; p.D885fs*10; 13:32337009-32337009	breast	carcinoma; ductal_carcinoma	Deletion - Frameshift
c.205C>T; p.P69S; 13:32319214-32319214	skin; ear	malignant_melanoma	Substitution - Missense
c.7447A>T; p.S2483C; 13:32356439-32356439	liver	carcinoma	Substitution - Missense
c.6920C>T; p.S2307L; 13:32344636-32344636	skin	malignant_melanoma	Substitution - Missense
c.9118-2A>T; p.?; 13:32380005-32380005	liver	carcinoma	Unknown
c.4014C>T; p.G1338G; 13:32338369-32338369	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4014C>T; p.G1338G; 13:32338369-32338369	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.7538_7539insA; p.T2515fs*24; 13:32356530-32356531	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.4014C>T; p.G1338G; 13:32338369-32338369	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.9247delA; p.T3085fs*19; 13:32380136-32380136	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.7242A>G; p.S2414S; 13:32355095-32355095	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.4014C>T; p.G1338G; 13:32338369-32338369	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4048C>A; p.H1350N; 13:32338403-32338403	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6698C>T; p.A2233V; 13:32341053-32341053	liver	carcinoma	Substitution - Missense
c.8111C>T; p.S2704F; 13:32363313-32363313	skin	malignant_melanoma	Substitution - Missense
c.4314C>T; p.V1438V; 13:32338669-32338669	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.6698C>T; p.A2233V; 13:32341053-32341053	liver	carcinoma	Substitution - Missense
c.10070C>G; p.T3357R; 13:32398583-32398583	breast	carcinoma	Substitution - Missense
c.4913A>G; p.K1638R; 13:32339268-32339268	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.6946A>C; p.K2316Q; 13:32346835-32346835	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.10123A>G; p.S3375G; 13:32398636-32398636	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.9801G>A; p.K3267K; 13:32398314-32398314	skin; trunk	malignant_melanoma; nodular	Substitution - coding silent
c.5173G>T; p.A1725S; 13:32339528-32339528	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.9703G>A; p.A3235T; 13:32398216-32398216	pituitary; craniopharyngeal_duct	craniopharyngioma; adamantinomatous	Substitution - Missense
c.938C>A; p.S313Y; 13:32332416-32332416	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4913A>G; p.K1638R; 13:32339268-32339268	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8032A>G; p.R2678G; 13:32363234-32363234	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.289G>T; p.E97*; 13:32319298-32319298	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.841G>T; p.D281Y; 13:32332319-32332319	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8032A>G; p.R2678G; 13:32363234-32363234	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.9937A>C; p.K3313Q; 13:32398450-32398450	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.8931T>G; p.Y2977*; 13:32379493-32379493	pancreas	NS	Substitution - Nonsense
c.9248_9256+7del16; p.?; 13:32380137-32380152	ovary	carcinoma	Unknown
c.7963C>T; p.Q2655*; 13:32362680-32362680	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.6201C>T; p.S2067S; 13:32340556-32340556	skin	malignant_melanoma	Substitution - coding silent
c.9997C>G; p.L3333V; 13:32398510-32398510	breast	carcinoma	Substitution - Missense
c.5434G>T; p.E1812*; 13:32339789-32339789	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2451G>T; p.K817N; 13:32336806-32336806	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6406T>G; p.L2136V; 13:32340761-32340761	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.9270C>T; p.F3090F; 13:32394702-32394702	endometrium	carcinoma; serous_carcinoma	Substitution - coding silent
c.4778A>G; p.E1593G; 13:32339133-32339133	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7417T>C; p.C2473R; 13:32355270-32355270	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5745G>A; p.T1915T; 13:32340100-32340100	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4058_4065delAAACGGAC; p.E1353fs*5; 13:32338413-32338420	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.7703T>G; p.F2568C; 13:32357827-32357827	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2344C>A; p.L782I; 13:32336699-32336699	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.4127G>A; p.G1376E; 13:32338482-32338482	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4144G>A; p.E1382K; 13:32338499-32338499	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7750G>T; p.G2584C; 13:32357874-32357874	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.8524C>T; p.R2842C; 13:32370992-32370992	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.8524C>T; p.R2842C; 13:32370992-32370992	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.8526C>T; p.R2842R; 13:32370994-32370994	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.8360G>A; p.R2787H; 13:32370430-32370430	ovary	carcinoma; mixed_carcinoma	Substitution - Missense
c.8524C>T; p.R2842C; 13:32370992-32370992	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4370T>C; p.L1457S; 13:32338725-32338725	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8137A>G; p.T2713A; 13:32363339-32363339	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7595C>T; p.P2532L; 13:32356587-32356587	skin; trunk	malignant_melanoma	Substitution - Missense
c.1888A>T; p.T630S; 13:32333366-32333366	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2799A>T; p.T933T; 13:32337154-32337154	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.4540G>T; p.E1514*; 13:32338895-32338895	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.3804_3806delTGT; p.V1270delV; 13:32338159-32338161	breast	carcinoma	Deletion - In frame
c.8131G>A; p.A2711T; 13:32363333-32363333	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2221G>T; p.V741L; 13:32336576-32336576	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3573G>C; p.K1191N; 13:32337928-32337928	breast	carcinoma	Substitution - Missense
c.7805+1G>A; p.?; 13:32357930-32357930	breast	carcinoma	Unknown
c.7244A>G; p.H2415R; 13:32355097-32355097	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.9480C>T; p.N3160N; 13:32394912-32394912	breast	carcinoma	Substitution - coding silent
c.8458G>A; p.V2820I; 13:32370528-32370528	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1888A>G; p.T630A; 13:32333366-32333366	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.427C>T; p.P143S; 13:32326102-32326102	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1806delA; p.I605fs*9; 13:32333284-32333284	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.8033G>T; p.R2678M; 13:32363235-32363235	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.7481G>A; p.R2494Q; 13:32356473-32356473	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.6241G>C; p.E2081Q; 13:32340596-32340596	urinary_tract; bladder	carcinoma	Substitution - Missense
c.9047C>A; p.S3016Y; 13:32379843-32379843	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.8909G>A; p.W2970*; 13:32379471-32379471	pancreas	carcinoma	Substitution - Nonsense
c.6290C>T; p.T2097M; 13:32340645-32340645	urinary_tract; bladder	carcinoma	Substitution - Missense
c.7481G>A; p.R2494Q; 13:32356473-32356473	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5044A>G; p.S1682G; 13:32339399-32339399	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.7979A>G; p.Y2660C; 13:32363181-32363181	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3475T>A; p.C1159S; 13:32337830-32337830	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.569C>A; p.P190H; 13:32326551-32326551	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.5044A>G; p.S1682G; 13:32339399-32339399	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5044A>G; p.S1682G; 13:32339399-32339399	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2307_2308insAAA; p.L769_I770insK; 13:32336662-32336663	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.5044A>G; p.S1682G; 13:32339399-32339399	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5044A>G; p.S1682G; 13:32339399-32339399	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3599_3600delGT; p.C1200fs*1; 13:32337954-32337955	large_intestine; colon	carcinoma	Deletion - Frameshift
c.9692C>A; p.S3231*; 13:32398205-32398205	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5044A>G; p.S1682G; 13:32339399-32339399	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.569C>A; p.P190H; 13:32326551-32326551	stomach	adenocarcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation